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Hutchinson – Gilford progeria syndrome: A rare case report
Hutchinson – Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic “plucked-bird” appearance, prom...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228646/ https://www.ncbi.nlm.nih.gov/pubmed/25396134 http://dx.doi.org/10.4103/2229-5178.142507 |
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author | Kashyap, Subhash Shanker, Vinay Sharma, Neeraj |
author_facet | Kashyap, Subhash Shanker, Vinay Sharma, Neeraj |
author_sort | Kashyap, Subhash |
collection | PubMed |
description | Hutchinson – Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic “plucked-bird” appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity. |
format | Online Article Text |
id | pubmed-4228646 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-42286462014-11-13 Hutchinson – Gilford progeria syndrome: A rare case report Kashyap, Subhash Shanker, Vinay Sharma, Neeraj Indian Dermatol Online J Case Report Hutchinson – Gilford Progeria Syndrome is a rare genetic disorder characterized by premature aging involving the skin, bones, heart, and blood vessels. We report a three-year-old boy with clinical manifestations characteristic of this syndrome. He had a characteristic “plucked-bird” appearance, prominent eyes and scalp veins, senile look, loss of scalp hair, eyebrows, and eyelashes, stunted growth, and mottled pigmentation with sclerodermatous changes over the trunk and lower limbs. Radiological changes and decreased high-density lipoprotein (HDL) levels were also characteristic of the syndrome. This interesting case is reported for its rarity. Medknow Publications & Media Pvt Ltd 2014 /pmc/articles/PMC4228646/ /pubmed/25396134 http://dx.doi.org/10.4103/2229-5178.142507 Text en Copyright: © Indian Dermatology Online Journal http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Kashyap, Subhash Shanker, Vinay Sharma, Neeraj Hutchinson – Gilford progeria syndrome: A rare case report |
title | Hutchinson – Gilford progeria syndrome: A rare case report |
title_full | Hutchinson – Gilford progeria syndrome: A rare case report |
title_fullStr | Hutchinson – Gilford progeria syndrome: A rare case report |
title_full_unstemmed | Hutchinson – Gilford progeria syndrome: A rare case report |
title_short | Hutchinson – Gilford progeria syndrome: A rare case report |
title_sort | hutchinson – gilford progeria syndrome: a rare case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228646/ https://www.ncbi.nlm.nih.gov/pubmed/25396134 http://dx.doi.org/10.4103/2229-5178.142507 |
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